Hydrops fetalis
Gene: TRIP11EnsemblGeneIds (GRCh38): ENSG00000100815
EnsemblGeneIds (GRCh37): ENSG00000100815
OMIM: 604505, Gene2Phenotype
TRIP11 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Case reports of hydrops in radiographically diagnosed babies.
Sources: Expert listCreated: 30 Dec 2019, 2:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achondrogenesis, type IA, MIM# 200600
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Achondrogenesis, type IA, MIM# 200600
- OMIM
- 604505
- Clinvar variants
- Variants in TRIP11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trip11 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trip11 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TRIP11 was added gene: TRIP11 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP11 were set to 30951048; 8897040 Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, MIM# 200600 Review for gene: TRIP11 was set to AMBER